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.M2805_M2806delFs

c.8414_8417del4

Surrounding Variants

1 paper

NM_000051.4

p.M2805fs

c.8413_8414fs

1 paper

NM_000051.4

p.M2805V

c.8413A>G

2 papers

NM_000051.4

p.M2806del1

c.8416_8417delATG

1 paper

NM_000051.4

p.M2805T

c.8414T>C

1 paper

NM_000051.4

p.K2804Q

c.8410A>C

1 paper

NM_000051.4

p.K2803N

c.8409G>C

1 paper

NM_000051.4

p.K2803N

c.8409G>T

1 paper

NM_000051.4

p.K2804delFs

c.8412delA

1 paper

NM_000051.4

p.K2803T

c.8408A>C

1 paper

NM_000051.4

p.M2806I

c.8418G>A

1 paper

NM_000051.4

p.M2806I

c.8418G>C

2 papers

NM_000051.4

p.M2806I

c.8418G>T