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.E358D

c.1074G>T

Surrounding Variants

2 papers

NM_000251.3

p.E358D

c.1074G>C

2 papers

NM_000251.3

p.R359insFs

c.1076dupG

4 papers

NM_000251.3

p.R359G

c.1075A>G

4 papers

NM_000251.3

p.R359*

c.1075A>T

1 paper

NM_000251.3

p.R359K

c.1076G>A

6 papers

NM_000251.3

p.R359T

c.1076G>C

1 paper

NM_000251.3

p.E358fs

c.1072_1073fs

1 paper

NM_000251.3

p.R359insFs

c.1076_1077insT

5 papers

NM_000251.3

p.R359I

c.1076G>T

2 papers

NM_000251.3

p.E358*

c.1072G>T

2 papers

NM_000251.3

p.E358fs

c.1072_1073fs

22 papers

NM_000251.3

p.R359S

c.1077A>C