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.L719fs

c.2155_2156fs

Surrounding Variants

1 paper

NM_000251.3

p.L719fs

c.2155_2156fs

2 papers

NM_000251.3

p.L719insFs

c.2156dupT

9 papers

NM_000251.3

p.Q718Q

c.2154A>G

1 paper

NM_000251.3

p.L719delFs

c.2156delT

2 papers

NM_000251.3

p.L719insFs

c.2157dupG

1 paper

NM_000251.3

p.Q718_L719insFs

c.2154_2155dupAT

2 papers

NM_000251.3

p.Q718P

c.2153A>C

1 paper

NM_000251.3

p.Q718_L719delFs

c.2154_2155delAT

2 papers

NM_000251.3

p.L719F

c.2157G>C

2 papers

NM_000251.3

p.L719F

c.2157G>T

1 paper

NM_000251.3

p.K720E

c.2158A>G

4 papers

NM_000251.3

p.K720_G721delFs

c.2160_2163del4