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.N143D

c.427A>G

Surrounding Variants

1 paper

NM_000051.4

p.N143insFs

c.427_428insA

1 paper

NM_000051.4

p.N143K

c.429C>G

4 papers

NM_000051.4

p.S142N

c.425G>A

1 paper

NM_000051.4

p.S142T

c.425G>C

1 paper

NM_000051.4

p.I144L

c.430A>C

1 paper

NM_000051.4

p.I144V

c.430A>G

1 paper

NM_000051.4

p.I144T

c.431T>C

4 papers

NM_000051.4

p.C141W

c.423T>G

5 papers

NM_000051.4

p.I144_L145insFs

c.432_433insA

1 paper

NM_000051.4

p.I144delFs

c.432delA

2 papers

NM_000051.4

p.I144M

c.432A>G

2 papers

NM_000051.4

p.I144I

c.432A>T