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

3 papers

NM_000251.3

p.S554Splc

c.1661+6C>T

Surrounding Variants

3 papers

NM_000251.3

p.S554Splc

c.1661+5G>A

9 papers

NM_000251.3

p.S554Splc

c.1661+5G>C

3 papers

NM_000251.3

p.S554Splc

c.1661+2T>C

3 papers

NM_000251.3

p.S554Splc

c.1661+2T>G

4 papers

NM_000251.3

p.S554R

c.1662C>A

4 papers

NM_000251.3

p.S554R

c.1662C>G

1 paper

NM_000251.3

p.S554Splc

c.1661+11C>T

17 papers

NM_000251.3

p.S554Splc

c.1661+1G>A

2 papers

NM_000251.3

p.S554Splc

c.1661+1G>C

10 papers

NM_000251.3

p.S554Splc

c.1661+1G>T

39 papers

NM_000251.3

p.S554Splc

c.1661+12G>A

22 papers

NM_000251.3

p.S554N

c.1661G>A