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

53 papers

NM_000051.4

p.E2052K

c.6154G>A

Surrounding Variants

1 paper

NM_000051.4

p.E2052insFs

c.6154_6155ins5

1 paper

NM_000051.4

p.E2052*

c.6154G>T

2 papers

NM_000051.4

p.E2052fs

c.6154_6155fs

1 paper

NM_000051.4

p.E2052_I2055delFs

c.6156_6163del8

2 papers

NM_000051.4

p.L2051L

c.6153C>T

1 paper

NM_000051.4

p.L2051H

c.6152T>A

1 paper

NM_000051.4

p.T2053fs

c.6157_6158fs

1 paper

NM_000051.4

p.T2053R

c.6158C>G

1 paper

NM_000051.4

p.A2054T

c.6160G>A

1 paper

NM_000051.4

p.D2050H

c.6148G>C

2 papers

NM_000051.4

p.D2050Y

c.6148G>T

2 papers

NM_000051.4

p.A2054S

c.6160G>T