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.V695A

c.2084T>C

Surrounding Variants

1 paper

NM_000251.3

p.V695E

c.2084T>A

1 paper

NM_000251.3

p.V695G

c.2084T>G

2 papers

NM_000251.3

p.V695insFs

c.2085dupG

7 papers

NM_000251.3

p.V695M

c.2083G>A

1 paper

NM_000251.3

p.V695L

c.2083G>C

3 papers

NM_000251.3

p.V695L

c.2083G>T

3 papers

NM_000251.3

p.P696_C697del2

c.2086_2090del6

1 paper

NM_000251.3

p.P696fs

c.2086_2087fs

1 paper

NM_000251.3

p.P696A

c.2086C>G

3 papers

NM_000251.3

p.P696S

c.2086C>T

1 paper

NM_000251.3

p.P696fs

c.2086_2087fs

1 paper

NM_000251.3

p.P696_E698delFs

c.2087_2093del7