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

10 papers

NM_000179.3

p.Q1146*

c.3436C>T

Surrounding Variants

1 paper

NM_000179.3

p.R1145K

c.3434G>A

1 paper

NM_000179.3

p.R1145I

c.3434G>T

18 papers

NM_000179.3

p.Q1146_A1147Splc

c.3438+1G>A

1 paper

NM_000179.3

p.Q1146_A1147Splc

c.3438+1G>C

2 papers

NM_000179.3

p.Q1146_A1147Splc

c.3438+1G>T

1 paper

NM_000179.3

p.Q1146_A1147Splc

c.3438+3A>T

2 papers

NM_000179.3

p.M1144R

c.3431T>G

1 paper

NM_000179.3

p.M1144fs

c.3430_3431fs

1 paper

NM_000179.3

p.M1144fs

c.3430_3431fs

1 paper

NM_000179.3

p.M1144insFs

c.3430dupA

2 papers

NM_000179.3

p.M1144insFs

c.3430_3431insAA

1 paper

NM_000179.3

p.L1143H

c.3428T>A