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

2 papers

NM_001042492.3

p.E1344*

c.4030G>T

Surrounding Variants

2 papers

NM_001042492.3

p.E1344K

c.4030G>A

1 paper

NM_001042492.3

p.E1344insFs

c.4030_4031insA

1 paper

NM_001042492.3

p.K1345delFs

c.4033_4034delAA

1 paper

NM_001042492.3

p.K1345_F1347del3

c.4033_4040del9

2 papers

NM_001042492.3

p.T1343insFs

c.4029dupT

1 paper

NM_001042492.3

p.T1343I

c.4028C>T

1 paper

NM_001042492.3

p.E1344_F1346delFs

c.4030_4037del8

1 paper

NM_001042492.3

p.T1343P

c.4027A>C

3 papers

NM_001042492.3

p.K1345*

c.4033A>T

1 paper

NM_001042492.3

p.K1345fs

c.4033_4034fs

2 papers

NM_001042492.3

p.M1342I

c.4026G>A

2 papers

NM_001042492.3

p.M1342I

c.4026G>C