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

2 papers

NM_000251.3

p.V722insFs

c.2165_2166insT

Surrounding Variants

11 papers

NM_000251.3

p.V722I

c.2164G>A

1 paper

NM_000251.3

p.V722_S723insYK

c.2164_2168ins6

3 papers

NM_000251.3

p.V722F

c.2164G>T

1 paper

NM_000251.3

p.S723delFs

c.2167_2168delTC

1 paper

NM_000251.3

p.V722fs

c.2164_2165fs

1 paper

NM_000251.3

p.V722_S723delFs

c.2165_2169del5

1 paper

NM_000251.3

p.V722_A733delFs

c.2165_2198del34

1 paper

NM_000251.3

p.V722del1

c.2164_2165delGTC

1 paper

NM_000251.3

p.V722_F725delFs

c.2166_2173del8

1 paper

NM_000251.3

p.V722A

c.2165T>C

3 papers

NM_000251.3

p.S723insFs

c.2167dupT

1 paper

NM_000251.3

p.V722_S723ins2

c.2166_2167ins6