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.E378K

c.1132G>A

Surrounding Variants

1 paper

NM_000251.3

p.E378*

c.1132G>T

1 paper

NM_000251.3

p.E378fs

c.1132_1133fs

3 papers

NM_000251.3

p.Q377Q

c.1131A>G

1 paper

NM_000251.3

p.E378_D379delFs

c.1134_1135delAG

1 paper

NM_000251.3

p.E378delFs

c.1132delG

1 paper

NM_000251.3

p.E378D

c.1134A>C

2 papers

NM_000251.3

p.Q377R

c.1130A>G

1 paper

NM_000251.3

p.E378D

c.1134A>T

1 paper

NM_000251.3

p.E378Fs

c.1132_1134delinsAFs

2 papers

NM_000251.3

p.D379_L380delFs

c.1135_1139del5

1 paper

NM_000251.3

p.Q377insFs

c.1130dupA

2 papers

NM_000251.3

p.Q377fs

c.1129_1130fs