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

3 papers

NM_000051.4

p.C384W

c.1152C>G

Surrounding Variants

1 paper

NM_000051.4

p.K385E

c.1153A>G

1 paper

NM_000051.4

p.C384Y

c.1151G>A

1 paper

NM_000051.4

p.C384_K385delFs

c.1152_1153delCA

1 paper

NM_000051.4

p.K385R

c.1154A>G

1 paper

NM_000051.4

p.C384S

c.1150T>A

1 paper

NM_000051.4

p.C384fs

c.1150_1151fs

1 paper

NM_000051.4

p.K385N

c.1155A>C

2 papers

NM_000051.4

p.K385N

c.1155A>T

1 paper

NM_000051.4

p.R386fs

c.1156_1157fs

2 papers

NM_000051.4

p.R386G

c.1156A>G

6 papers

NM_000051.4

p.R386delFs

c.1158delG

2 papers

NM_000051.4

p.P383H

c.1148C>A