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_000267.3

p.M1388R

c.4163T>G

Surrounding Variants

1 paper

NM_001042492.3

p.M1409T

c.4226T>C

1 paper

NM_001042492.3

p.M1409I

c.4227G>A

1 paper

NM_001042492.3

p.M1409I

c.4227G>C

1 paper

NM_001042492.3

p.M1409I

c.4227G>T

1 paper

NM_001042492.3

p.F1410I

c.4228T>A

2 papers

NM_000267.3

p.A1387D

c.4160C>A

NM_001042492.3

p.A1408D

c.4223C>A

1 paper

NM_001042492.3

p.A1408_M1409delFs

c.4224_4225delCA

1 paper

NM_001042492.3

p.F1410_L1411delFs

c.4230_4231delCC

1 paper

NM_001042492.3

p.F1410F

c.4230C>T

1 paper

NM_001042492.3

p.F1410_N1415delins

c.4230_4245delinsG

4 papers

NM_001042492.3

p.L1411V

c.4231C>G

7 papers

NM_001042492.3

p.L1411F

c.4231C>T

NM_000267.3

p.L1390F

c.4168C>T