Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000267.3

p.K1423*

c.4267A>T

NM_001042492.3

p.K1444*

c.4330A>T

Surrounding Variants

1 paper

NM_001042492.3

p.K1444fs

c.4330_4331fs

8 papers

NM_000267.3

p.K1423Q

c.4267A>C

NM_001042492.3

p.K1444Q

c.4330A>C

55 papers

NM_001042492.3

p.K1444E

c.4330A>G

NM_000267.3

p.K1423E

c.4267A>G

1 paper

NM_001042492.3

p.K1444T

c.4331A>C

7 papers

NM_001042492.3

p.K1444R

c.4331A>G

NM_000267.3

p.K1423R

c.4268A>G

3 papers

NM_000267.3

p.K1423M

c.4268A>T

NM_001042492.3

p.K1444M

c.4331A>T

2 papers

NM_001042492.3

p.K1444del1

c.4330_4331delAAG

NM_000267.3

p.K1423del1

c.4267_4268delAAG

2 papers

NM_001042492.3

p.S1443*

c.4328C>A

2 papers

NM_001042492.3

p.S1443*

c.4328C>G

2 papers

NM_000267.3

p.S1422L

c.4265C>T

2 papers

NM_000267.3

p.K1423K

c.4269G>A

13 papers

NM_000267.3

p.K1423N

c.4269G>C

NM_001042492.3

p.K1444N

c.4332G>C