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.S979I

c.2936G>T

Surrounding Variants

1 paper

NM_001042492.3

p.S980delFs

c.2939_2940delCT

1 paper

NM_001042492.3

p.S979R

c.2935A>C

1 paper

NM_001042492.3

p.S979delFs

c.2936delG

1 paper

NM_001042492.3

p.S979R

c.2937C>A

1 paper

NM_001042492.3

p.S979R

c.2937C>G

2 papers

NM_001042492.3

p.S979S

c.2937C>T

1 paper

NM_001042492.3

p.S980_E981del2

c.2938_2942del6

4 papers

NM_001042492.3

p.S979_E981insFs

c.2936_2942dup7

1 paper

NM_001042492.3

p.S980_A986delFs

c.2939_2958del20

1 paper

NM_001042492.3

p.S980C

c.2939C>G

1 paper

NM_001042492.3

p.G978delFs

c.2934delC

1 paper

NM_001042492.3

p.G978C

c.2932G>T