Varaico: Literature-Extracted Genetic Variants

MSH2

3,750 papers

RefSeq Summary

This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the cha...

Pfam Domains

MutS_Iaa 17–132UCSCMutS domain I

MutS_IIaa 145–290UCSCMutS domain II

MutS_IIIaa 305–609UCSCMutS domain III

MutS_IVaa 473–569UCSCMutS family domain IV

MutS_Vaa 665–852UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 2

HGNC Previous Symbol

COCA1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000251.3

p.V166M

c.496G>A

Surrounding Variants

2 papers

NM_000251.3

p.V166L

c.496G>C

1 paper

NM_000251.3

p.V166insFs

c.497dupT

1 paper

NM_000251.3

p.V166L

c.496G>T

3 papers

NM_000251.3

p.V166delFs

c.497delT

2 papers

NM_000251.3

p.V166fs

c.496_497fs

5 papers

NM_000251.3

p.Y165*

c.495T>A

1 paper

NM_000251.3

p.V166E

c.497T>A

6 papers

NM_000251.3

p.Y165*

c.495T>G

1 paper

NM_000251.3

p.V166insFs

c.496dupG

1 paper

NM_000251.3

p.V166Fs

c.497_498delinsCFs

1 paper

NM_000251.3

p.V166delFs

c.496delG

64 papers

NM_000251.3

p.Y165C

c.494A>G