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.H388L

c.1163A>T

Surrounding Variants

1 paper

NM_000179.3

p.H388insFs

c.1163_1164insT

2 papers

NM_000179.3

p.P389delFs

c.1167delC

1 paper

NM_000179.3

p.H388Q

c.1164C>A

1 paper

NM_000179.3

p.H388insFs

c.1163_1164insA

1 paper

NM_000179.3

p.H388fs

c.1162_1163fs

5 papers

NM_000179.3

p.H388D

c.1162C>G

11 papers

NM_000179.3

p.H388H

c.1164C>T

4 papers

NM_000179.3

p.P389S

c.1165C>T

1 paper

NM_000179.3

p.D387E

c.1161T>G

2 papers

NM_000179.3

p.H388_P389del2

c.1162_1166del6

1 paper

NM_000179.3

p.P389P

c.1167C>T

1 paper

NM_000179.3

p.D390delFs

c.1168delG