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.L161_E163delFs

c.481_487del7

Surrounding Variants

6 papers

NM_001042492.3

p.R160Splc

c.480-2A>G

6 papers

NM_001042492.3

p.R160Splc

c.480-1G>A

1 paper

NM_001042492.3

p.R160Splc

c.480-1G>C

4 papers

NM_001042492.3

p.R160Splc

c.480-1G>T

1 paper

NM_001042492.3

p.R160S

c.480G>T

5 papers

NM_001042492.3

p.L161fs

c.481_482fs

7 papers

NM_001042492.3

p.L161fs

c.481_482fs

1 paper

NM_001042492.3

p.L161_Q162delins

c.481_485delinsCCCAG

3 papers

NM_001042492.3

p.R160Splc

c.480-8C>G

9 papers

NM_001042492.3

p.L161*

c.482T>A

1 paper

NM_001042492.3

p.L161S

c.482T>C

7 papers

NM_001042492.3

p.L161*

c.482T>G