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

1 paper

NM_001042492.3

p.S1391_V1392Splc

c.4174-1G>A

Surrounding Variants

3 papers

NM_001042492.3

p.S1391_V1392Splc

c.4174-1G>T

1 paper

NM_001042492.3

p.S1391_V1392Splc

c.4174-2A>G

3 papers

NM_001042492.3

p.S1391_V1392Splc

c.4174-2A>T

NM_000267.3

p.Q1370_V1371Splc

c.4111-2A>T

1 paper

NM_001042492.3

p.V1392del1

c.4174_4176delGTG

1 paper

NM_000267.3

p.V1371fs

c.4111_4112fs

1 paper

NM_001042492.3

p.V1392insFs

c.4175dupT

1 paper

NM_001042492.3

p.V1392delFs

c.4176delG

1 paper

NM_000267.3

p.V1372delFs

c.4114_4115delGT

1 paper

NM_001042492.3

p.S1391_V1392Splc

c.4174-4T>C

3 papers

NM_000267.3

p.Q1374_R1375delFs

c.4120_4123del4

NM_001042492.3

p.Q1395_R1396delFs

c.4183_4186del4

1 paper

NM_001042492.3

p.S1394fs

c.4180_4181fs

1 paper

NM_001042492.3

p.S1394R

c.4180A>C