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.E394D

c.1182A>C

Surrounding Variants

1 paper

NM_000051.4

p.E394D

c.1182A>T

1 paper

NM_000051.4

p.V395I

c.1183G>A

1 paper

NM_000051.4

p.V395fs

c.1183_1184fs

1 paper

NM_000051.4

p.E394K

c.1180G>A

3 papers

NM_000051.4

p.V395A

c.1184T>C

9 papers

NM_000051.4

p.W393*

c.1179G>A

1 paper

NM_000051.4

p.W393C

c.1179G>C

1 paper

NM_000051.4

p.W393C

c.1179G>T

1 paper

NM_000051.4

p.I396fs

c.1186_1187fs

1 paper

NM_000051.4

p.I396V

c.1186A>G

10 papers

NM_000051.4

p.W393*

c.1178G>A

2 papers

NM_000051.4

p.W393L

c.1178G>T