Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.Y264H

c.790T>C

Surrounding Variants

1 paper

NM_000051.4

p.Y264N

c.790T>A

6 papers

NM_000051.4

p.Y264fs

c.790_791fs

11 papers

NM_000051.4

p.Y264fs

c.790_791fs

1 paper

NM_000051.4

p.Y264_I265insFs

c.792_793insT

1 paper

NM_000051.4

p.Y264S

c.791A>C

3 papers

NM_000051.4

p.Y264C

c.791A>G

1 paper

NM_000051.4

p.Y264F

c.791A>T

2 papers

NM_000051.4

p.Y264_I265delFs

c.791_794del4

1 paper

NM_000051.4

p.L263P

c.788T>C

3 papers

NM_000051.4

p.I265fs

c.793_794fs

2 papers

NM_000051.4

p.I265V

c.793A>G

1 paper

NM_000051.4

p.I265_T267delFs

c.795_801del7