Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.E1163insFs

c.3489dupA

Surrounding Variants

1 paper

NM_000179.3

p.E1163K

c.3487G>A

1 paper

NM_000179.3

p.E1163ins3

c.3487_3488ins9

2 papers

NM_000179.3

p.E1163_V1164insT

c.3487_3491ins3

8 papers

NM_000179.3

p.E1163*

c.3487G>T

1 paper

NM_000179.3

p.E1163delFs

c.3489delA

1 paper

NM_000179.3

p.E1163delFs

c.3488_3489delAA

1 paper

NM_000179.3

p.E1163fs

c.3487_3488fs

1 paper

NM_000179.3

p.E1163G

c.3488A>G

39 papers

NM_000179.3

p.E1163V

c.3488A>T

1 paper

NM_000179.3

p.A1162A

c.3486T>A

1 paper

NM_000179.3

p.V1164insFs

c.3490dupG

2 papers

NM_000179.3

p.E1163D

c.3489A>C