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_000267.3

p.L1390P

c.4169T>C

Surrounding Variants

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

1 paper

NM_000267.3

p.L1390fs

c.4168_4169fs

1 paper

NM_001042492.3

p.R1412fs

c.4234_4235fs

4 papers

NM_001042492.3

p.R1412G

c.4234A>G

NM_000267.3

p.R1391G

c.4171A>G

2 papers

NM_001042492.3

p.R1412*

c.4234A>T

1 paper

NM_001042492.3

p.F1410F

c.4230C>T

1 paper

NM_001042492.3

p.F1410_N1415delins

c.4230_4245delinsG

2 papers

NM_001042492.3

p.R1412K

c.4235G>A

NM_000267.3

p.R1391K

c.4172G>A

9 papers

NM_000267.3

p.R1391T

c.4172G>C

NM_001042492.3

p.R1412T

c.4235G>C

2 papers

NM_001042492.3

p.R1412I

c.4235G>T

1 paper

NM_000267.3

p.R1391_F1392delFs

c.4173_4174delAT